Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
112398
Gene name Gene Name - the full gene name approved by the HGNC.
Egl-9 family hypoxia inducible factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EGLN2
Synonyms (NCBI Gene) Gene synonyms aliases
EIT-6, EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this p
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006784 hsa-miR-205-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 22859986
MIRT006784 hsa-miR-205-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 22859986
MIRT051206 hsa-miR-16-5p CLASH 23622248
MIRT049430 hsa-miR-92a-3p CLASH 23622248
MIRT708273 hsa-miR-4267 HITS-CLIP 19536157
Transcription factors
Transcription factor Regulation Reference
ARNT Unknown 15178343
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001558 Process Regulation of cell growth NAS 11850811
GO:0001666 Process Response to hypoxia IDA 11595184
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 16511565, 17353276, 22286099
GO:0005634 Component Nucleus IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606424 14660 ENSG00000269858
Protein
UniProt ID Q96KS0
Protein name Prolyl hydroxylase EGLN2 (EC 1.14.11.-) (Egl nine homolog 2) (EC 1.14.11.29) (Estrogen-induced tag 6) (EIT-6) (HPH-3) (Hypoxia-inducible factor prolyl hydroxylase 1) (HIF-PH1) (HIF-prolyl hydroxylase 1) (HPH-1) (Prolyl hydroxylase domain-containing protei
Protein function Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as ATF4, IKBKB, CEP192 and HIF1A (PubMed:11595184, PubMed:12039559, PubMed:15925519, PubMed:16509823, PubMed:17114296, PubMed:23932902). Target proteins
PDB 5V1B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13640 2OG-FeII_Oxy_3 282 375 2OG-Fe(II) oxygenase superfamily Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in adult and fetal heart, brain, liver, lung, skeletal muscle, and kidney. Also expressed in testis and placenta. Highest levels in adult brain, placenta, lung, kidney, and testis. Expressed in hormone responsive tissues, inc
Sequence
MDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLPCPLLPSYHCPGVPSEASAG
SGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRK
WAEDGGDAPSPSKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALD
YIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRDGQLVSQRAIPPRSIRGDQI
AWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKAMVACYPGNGLGYVRHVDN
PHGDGRCITCIYYLNQNWDVKVHGGLLQIFPEGRPVVANIEPLFDRLLIFWSDRRNPHEV
KPAYATRYAITVWYF
DAKERAAAKDKYQLASGQKGVQVPVSQPPTPT
Sequence length 407
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  HIF-1 signaling pathway
Pathways in cancer
Renal cell carcinoma
  Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Plasma letrozole concentrations in letrozole treated hormone-receptor-positive breast cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30665327
Breast Neoplasms Associate 21291529, 26492917, 29693343, 32558530
Carcinogenesis Associate 24894671
Carcinoma Hepatocellular Associate 17717605
Carcinoma Non Small Cell Lung Associate 24894671, 30665327
Carcinoma Pancreatic Ductal Associate 39647834
Cluster Headache Associate 27659016
Colorectal Neoplasms Associate 24195777, 28218358, 36976352
Glaucoma Associate 36450729
Hereditary Breast and Ovarian Cancer Syndrome Associate 26492917